Insertion of an Alu Element in Thyroglobulin Gene as a Novel Cause of Congenital Hypothyroidism

The thyroglobulin (TG) gene encodes a protein required for thyroid hormone synthesis and iodine storage. Deleterious TG mutations produce congenital hypothyroidism (CH) often presenting with undetectable serum TG. Alu elements, common throughout the human genome, have a poly(dA) region in the 3′ end...

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Détails bibliographiques
Publié dans:Thyroid
Auteurs principaux: Bruellman, Ryan, Watanabe, Yui, Shareef, Reham, Abdullah, Mohamed A., Dumitrescu, Alexandra, Strauss, Bernard S., Refetoff, Samuel, Weiss, Roy E.
Format: Artigo
Langue:Inglês
Publié: Mary Ann Liebert, Inc., publishers 2020
Sujets:
Brief Report
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7232585/
https://ncbi.nlm.nih.gov/pubmed/31868128
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1089/thy.2019.0636
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